Deleterious mutation in the FYB gene is associated with congenital autosomal recessive small-platelet thrombocytopenia

Journal of Thrombosis and Haemostasis

Volumn 13, Issue 7, 2015, Pages 1285-1292

  Levin, C ^a,b   Koren, A ^a,b   Pretorius, E ^c   Rosenberg, N ^d   Shenkman, B ^d   Hauschner, H ^d   Zalman, L ^a   Khayat, M ^a   Salama, I ^e   Elpeleg, O ^f   Shalev, S ^a,b  

^a HAEMEK MEDICAL CENTER   (Israel)

^b TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^c UNIVERSITY OF PRETORIA   (South Africa)

^d TEL AVIV UNIVERSITY   (Israel)

^e CLALIT HEALTH SERVICES   (Israel)

^f HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

Adaptor proteins; Blood platelet disorders; Humans; Inherited blood coagulation disorders; Mutation; Signal transducing

Indexed keywords

ADENOSINE DIPHOSPHATE; DUAL SPECIFICITY PHOSPHATASE 2; PADGEM PROTEIN; DUSP2 PROTEIN, HUMAN; FYB PROTEIN, HUMAN; GENETIC MARKER; SELP PROTEIN, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN; STOP CODON;

ARAB; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; BLOOD SMEAR; BONE MARROW BIOPSY; CHRISTIAN; CHROMOSOME 5; CLINICAL ARTICLE; CONTROLLED STUDY; EXOME; FLOW CYTOMETRY; FYB GENE; GENE; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; IRON DEFICIENCY ANEMIA; MEGAKARYOCYTE; NONSENSE MUTATION; PEDIGREE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PSEUDOPODIUM; SCANNING ELECTRON MICROSCOPY; SEQUENCE ANALYSIS; THROMBOCYTE COUNT; THROMBOCYTE FUNCTION; THROMBOCYTE VOLUME; THROMBOCYTOPENIA; BLOOD; BLOOD CLOTTING PARAMETERS; CELL SIZE; DNA MUTATIONAL ANALYSIS; EPIDEMIOLOGY; ETHNOLOGY; GENETIC MARKER; GENETIC PREDISPOSITION; GENETICS; HEMORRHAGE; HEMOSTASIS; HETEROZYGOTE; HOMOZYGOTE; ISRAEL; METABOLISM; PHENOTYPE; PREDICTIVE VALUE; RISK FACTOR; STOP CODON; THROMBOCYTE; ULTRASTRUCTURE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ARABS; BLOOD PLATELETS; CELL SIZE; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; DUAL SPECIFICITY PHOSPHATASE 2; EXOME; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; HEMORRHAGE; HEMOSTASIS; HETEROZYGOTE; HOMOZYGOTE; HUMANS; ISRAEL; MICROSCOPY, ELECTRON, SCANNING; P-SELECTIN; PEDIGREE; PHENOTYPE; PLATELET FUNCTION TESTS; PREDICTIVE VALUE OF TESTS; RISK FACTORS; THROMBOCYTOPENIA;

EID: 84935725308     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/jth.12966     Document Type: Article

References (27)

1. Drachman JG. Inherited thrombocytopenia: when a low platelet count does not mean ITP. Blood 2004; 103: 390-8.
2. Lambert MP. What to do when you suspect an inherited platelet disorder. Hematology Am Soc Hematol Educ Program 2011; 2011: 377-83.
3. Geddis AE. A POTEntial new gene for thrombocytopenia. Blood 2011; 117: 6406-8.
4. Balduini CL, Savoia A. Genetics of familial forms of thrombocytopenia. Hum Genet 2012; 131: 1821-32.
5. Levin C, Zalman L, Tamary H, Krasnov T, Khayat M, Shalev S, Salama I, Koren A. Small-platelet thrombocytopenia in a family with autosomal recessive inheritance pattern. Pediatr Blood Cancer 2013; 60: E128-30.
6. Thrasher AJ. New insights into the biology of Wiskott-Aldrich syndrome (WAS). Hematology Am Soc Hematol Educ Program 2009; 2009: 132-8.
7. Zlotogora J. Genetics and genomic medicine in Israel. Mol Genet Genomic Med 2014; 2: 85-94.
8. Edvardson S, Cinnamon Y, Jalas C, Shaag A, Maayan C, Axelrod FB, Elpeleg O. Hereditary sensory autonomic neuropathy caused by a mutation in dystonin. Ann Neurol 2012; 71: 569-72.
9. Strauss T, Rozenzweig N, Rosenberg N, Shenkman B, Livnat T, Morag I, Fruchtman Y, Martinowitz U, Kenet G. Surfactant impairs coagulation in-vitro: a risk factor for pulmonary hemorrhage? Thromb Res 2013; 132: 599-603.
10. Misgav M, Shenkman B, Budnik I, Einav Y, Martinowitz U. Differential roles of fibrinogen and von Willebrand factor on clot formation and platelet adhesion in reconstituted and immune thrombocytopenia. Anesth Analg 2011; 112: 1034-40.
11. Hauschner H, Mor-Cohen R, Messineo S, Mansour W, Seligsohn U, Savoia A, Rosenberg N. Abnormal cytoplasmic extensions associated with active aIIbb3 are probably the cause for macrothrombocytopenia in Glanzmann thrombasthenia-like syndrome. Blood Coagul Fibrinolysis 2015; 26: 302-8.
12. Gasparyan AY, Ayvazyan L, Pretorius E, Kitas GD. Platelets in rheumatic diseases: friend or foe? Curr Pharm Des 2014; 20: 552-66.
13. Pretorius E. The role of platelet and fibrin ultrastructure in identifying disease patterns. Pathophysiol Haemost Thromb 2008; 36: 251-8.
14. Pretorius E, Briedenhann S, Marx J, Franz RC. Structural changes in the fibrin network of a Pretoria family with dysfibrinogenemia: a scanning electron microscopical study. Ultrastruct Pathol 2006; 30: 167-76.
15. Pretorius E, Du Plooy J, Soma P, Gasparyan AY. An ultrastructural analysis of platelets, erythrocytes, white blood cells, and fibrin network in systemic lupus erythematosus. Rheumatol Int 2014; 34: 1005-9.
16. Kasirer-Friede A, Moran B, Nagrampa-Orje J, Swanson K, Ruggeri AM, Schraven B, Neel BG, Koretzky G, Shattil SJ. ADAP is required for normal alphaIIbbeta3 activation by VWF/GP Ib-IX-V and other agonists. Blood 2007; 109: 1018-25.
17. Jarvis GE, Bihan D, Hamaia S, Pugh N, Ghevaert CJ, Pearce AC, Hughes CE, Watson SP, Ware J, Rudd CE, Farndale RW. A role for adhesion and degranulation-promoting adapter protein in collagen-induced platelet activation mediated via integrin alpha 2 beta 1. J Thromb Haemost 2012; 10: 268-77.
18. Shenkman B, Savion N, Dardik R, Tamarin I, Varon D. Testing of platelet deposition on polystyrene surface under flow conditions by the cone and plate(let) analyzer: role of platelet activation, fibrinogen and von Willebrand factor. Thromb Res 2000; 99: 353-61.
19. Togni M, Engelmann S, Reinhold D, Schraven B, Reinhold A. The adapter protein ADAP is required for selected dendritic cell functions. Cell Commun Signal 2012; 10: 14.
20. Sylvester M. Adhesion and degranulation promoting adapter protein (ADAP) is a central hub for phosphotyrosine-mediated interactions in T cells. PLoS One 2010; 5: e11708.
21. Musci MA, Hendricks-Taylor LR, Motto DG, Paskind M, Kamens J, Turck CW, Koretzky GA. Molecular cloning of SLAP-130, and SLP-76-associated substrate of the T cell antigen receptor-stimulated protein tyrosine kinases. J Biol Chem 1997; 272: 11674-7.
22. da Silva AJ, Li Z, De Vera C, Canto E, Findell P, Rudd CE. Cloning of a novel T-cell protein FYB that binds FYN and SH2-domain-containing leukocyte protein 76 and modulates interleukin 2 production. Proc Natl Acad Sci USA 1997; 94: 7493-8.
23. Krause M. Fyn-binding protein (Fyb)/SLP-76-associated protein (SLAP), Ena/vasodilator-stimulated phosphoprotein (VASP) proteins and the Arp2/3 complex link T cell receptor (TCR) signaling to the actin cytoskeleton. J Cell Biol 2000; 149: 181-94.
24. Pauker MH, Reicher B, Fried S, Perl O, Barda-Saad M. Functional cooperation between the proteins Nck and ADAP is fundamental for actin reorganization. Mol Cell Biol 2011; 31: 2653-66.
25. Kasirer-Friede A, Ruggeri ZM, Shattil SJ. Role for ADAP in shear flow-induced platelet mechanotransduction. Blood 2010; 115: 2274-82.
26. Kasirer-Friede A, Kang J, Kahner B, Ye F, Ginsberg MH, Shattil SJ. ADAP interactions with talin and kindlin promote platelet integrin αIIbβ3 activation and stable fibrinogen binding. Blood 2014; 123: 3156-65.
27. Peterson EJ, Woods ML, Dmowski SA, Derimanov G, Jordan MS, Wu JN, Myung PS, Liu QH, Pribila JT, Freedman BD, Shimizu Y, Koretzky GA. Coupling of the TCR to integrin activation by Slap-130/Fyb. Science 2001; 293: 2263-5.